Mutagenetix > Incidental Mutation

Incidental Mutation 'R5652:Tjp1'

441482

Institutional Source

Beutler Lab

Gene Symbol

Tjp1

Ensembl Gene

ENSMUSG00000030516

Gene Name

tight junction protein 1

Synonyms

ZO1, ZO-1

MMRRC Submission

043298-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65296165-65527781 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 65312443 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032729] [ENSMUST00000032729] [ENSMUST00000032729] [ENSMUST00000032729] [ENSMUST00000102592] [ENSMUST00000102592] [ENSMUST00000102592] [ENSMUST00000102592] [ENSMUST00000206612] [ENSMUST00000206612] [ENSMUST00000206612] [ENSMUST00000206612]

AlphaFold

P39447

PDB Structure

Interplay between phosphatidyl-inositol-phosphates and claudins upon binding to the 1st PDZ domain of zonula occludens 1 [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000032729

SMART Domains

Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
PDZ	32	110	1.65e-15	SMART
PDZ	196	264	3.92e-17	SMART
low complexity region	302	324	N/A	INTRINSIC
PDZ	431	504	5.94e-17	SMART
SH3	519	583	6.41e-2	SMART
GuKc	606	794	1.28e-49	SMART
low complexity region	810	824	N/A	INTRINSIC
low complexity region	893	906	N/A	INTRINSIC
low complexity region	1157	1176	N/A	INTRINSIC
low complexity region	1246	1257	N/A	INTRINSIC
low complexity region	1308	1319	N/A	INTRINSIC
low complexity region	1339	1365	N/A	INTRINSIC
low complexity region	1389	1400	N/A	INTRINSIC
ZU5	1549	1654	1.1e-56	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000032729

SMART Domains

Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
PDZ	32	110	1.65e-15	SMART
PDZ	196	264	3.92e-17	SMART
low complexity region	302	324	N/A	INTRINSIC
PDZ	431	504	5.94e-17	SMART
SH3	519	583	6.41e-2	SMART
GuKc	606	794	1.28e-49	SMART
low complexity region	810	824	N/A	INTRINSIC
low complexity region	893	906	N/A	INTRINSIC
low complexity region	1157	1176	N/A	INTRINSIC
low complexity region	1246	1257	N/A	INTRINSIC
low complexity region	1308	1319	N/A	INTRINSIC
low complexity region	1339	1365	N/A	INTRINSIC
low complexity region	1389	1400	N/A	INTRINSIC
ZU5	1549	1654	1.1e-56	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000032729

SMART Domains

Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
PDZ	32	110	1.65e-15	SMART
PDZ	196	264	3.92e-17	SMART
low complexity region	302	324	N/A	INTRINSIC
PDZ	431	504	5.94e-17	SMART
SH3	519	583	6.41e-2	SMART
GuKc	606	794	1.28e-49	SMART
low complexity region	810	824	N/A	INTRINSIC
low complexity region	893	906	N/A	INTRINSIC
low complexity region	1157	1176	N/A	INTRINSIC
low complexity region	1246	1257	N/A	INTRINSIC
low complexity region	1308	1319	N/A	INTRINSIC
low complexity region	1339	1365	N/A	INTRINSIC
low complexity region	1389	1400	N/A	INTRINSIC
ZU5	1549	1654	1.1e-56	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000032729

SMART Domains

Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
PDZ	32	110	1.65e-15	SMART
PDZ	196	264	3.92e-17	SMART
low complexity region	302	324	N/A	INTRINSIC
PDZ	431	504	5.94e-17	SMART
SH3	519	583	6.41e-2	SMART
GuKc	606	794	1.28e-49	SMART
low complexity region	810	824	N/A	INTRINSIC
low complexity region	893	906	N/A	INTRINSIC
low complexity region	1157	1176	N/A	INTRINSIC
low complexity region	1246	1257	N/A	INTRINSIC
low complexity region	1308	1319	N/A	INTRINSIC
low complexity region	1339	1365	N/A	INTRINSIC
low complexity region	1389	1400	N/A	INTRINSIC
ZU5	1549	1654	1.1e-56	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000102592

SMART Domains

Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
PDZ	32	110	1.65e-15	SMART
PDZ	196	264	3.92e-17	SMART
low complexity region	302	324	N/A	INTRINSIC
PDZ	431	504	5.94e-17	SMART
SH3	519	583	6.41e-2	SMART
GuKc	606	794	1.28e-49	SMART
low complexity region	810	824	N/A	INTRINSIC
low complexity region	893	906	N/A	INTRINSIC
low complexity region	939	955	N/A	INTRINSIC
low complexity region	1237	1256	N/A	INTRINSIC
low complexity region	1326	1337	N/A	INTRINSIC
low complexity region	1388	1399	N/A	INTRINSIC
low complexity region	1419	1445	N/A	INTRINSIC
low complexity region	1469	1480	N/A	INTRINSIC
ZU5	1629	1735	1.84e-58	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000102592

SMART Domains

Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
PDZ	32	110	1.65e-15	SMART
PDZ	196	264	3.92e-17	SMART
low complexity region	302	324	N/A	INTRINSIC
PDZ	431	504	5.94e-17	SMART
SH3	519	583	6.41e-2	SMART
GuKc	606	794	1.28e-49	SMART
low complexity region	810	824	N/A	INTRINSIC
low complexity region	893	906	N/A	INTRINSIC
low complexity region	939	955	N/A	INTRINSIC
low complexity region	1237	1256	N/A	INTRINSIC
low complexity region	1326	1337	N/A	INTRINSIC
low complexity region	1388	1399	N/A	INTRINSIC
low complexity region	1419	1445	N/A	INTRINSIC
low complexity region	1469	1480	N/A	INTRINSIC
ZU5	1629	1735	1.84e-58	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000102592

SMART Domains

Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
PDZ	32	110	1.65e-15	SMART
PDZ	196	264	3.92e-17	SMART
low complexity region	302	324	N/A	INTRINSIC
PDZ	431	504	5.94e-17	SMART
SH3	519	583	6.41e-2	SMART
GuKc	606	794	1.28e-49	SMART
low complexity region	810	824	N/A	INTRINSIC
low complexity region	893	906	N/A	INTRINSIC
low complexity region	939	955	N/A	INTRINSIC
low complexity region	1237	1256	N/A	INTRINSIC
low complexity region	1326	1337	N/A	INTRINSIC
low complexity region	1388	1399	N/A	INTRINSIC
low complexity region	1419	1445	N/A	INTRINSIC
low complexity region	1469	1480	N/A	INTRINSIC
ZU5	1629	1735	1.84e-58	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000102592

SMART Domains

Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
PDZ	32	110	1.65e-15	SMART
PDZ	196	264	3.92e-17	SMART
low complexity region	302	324	N/A	INTRINSIC
PDZ	431	504	5.94e-17	SMART
SH3	519	583	6.41e-2	SMART
GuKc	606	794	1.28e-49	SMART
low complexity region	810	824	N/A	INTRINSIC
low complexity region	893	906	N/A	INTRINSIC
low complexity region	939	955	N/A	INTRINSIC
low complexity region	1237	1256	N/A	INTRINSIC
low complexity region	1326	1337	N/A	INTRINSIC
low complexity region	1388	1399	N/A	INTRINSIC
low complexity region	1419	1445	N/A	INTRINSIC
low complexity region	1469	1480	N/A	INTRINSIC
ZU5	1629	1735	1.84e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000206612

Predicted Effect

probably benign
Transcript: ENSMUST00000206612

Predicted Effect

probably benign
Transcript: ENSMUST00000206612

Predicted Effect

probably benign
Transcript: ENSMUST00000206612

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded protein may be involved in signal transduction at cell-cell junctions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele show embryonic lethality and growth retardation, failure of embryo turning and chorioallantoic fusion, defective yolk sac angiogenesis, and increased apoptosis in the notochord, neural tube, somite and allantois. Homozygotes for a reporter allele are overtly normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	G	9: 22,424,490	T135A	probably benign	Het
Abcc4	T	C	14: 118,618,927	I334V	probably benign	Het
Adamts5	C	T	16: 85,899,268	A334T	probably damaging	Het
Adcy4	G	C	14: 55,773,443	F672L	probably benign	Het
Adgrl1	A	G	8: 83,929,815	Y254C	probably damaging	Het
Adnp2	A	G	18: 80,130,850	S115P	probably damaging	Het
Aox1	A	T	1: 58,095,197	S1110C	probably damaging	Het
Arhgap44	G	T	11: 65,024,238	N401K	probably damaging	Het
Atp23	A	T	10: 126,899,625	N63K	possibly damaging	Het
Atp8b1	G	C	18: 64,531,382	I1238M	probably benign	Het
Ccdc38	A	T	10: 93,555,586		probably null	Het
Celsr2	T	C	3: 108,396,735	D2364G	probably null	Het
Celsr3	G	A	9: 108,838,472	D2116N	probably benign	Het
Cenpf	A	G	1: 189,657,082	S1518P	probably damaging	Het
Clcn3	C	A	8: 60,919,353	V758L	possibly damaging	Het
Ctsf	T	C	19: 4,858,477	L288P	probably damaging	Het
Cwh43	A	G	5: 73,418,141	T334A	probably damaging	Het
Cyp3a57	A	T	5: 145,349,325		probably null	Het
Ddr1	C	T	17: 35,686,508	A531T	probably benign	Het
Dennd1a	A	G	2: 37,801,126	I260T	probably benign	Het
Dgkh	T	C	14: 78,627,761	H47R	probably damaging	Het
Dync1h1	G	A	12: 110,665,988	V4514I	possibly damaging	Het
Dync2h1	A	T	9: 7,116,638	M66K	probably benign	Het
Fam186a	T	G	15: 99,945,372	Y997S	possibly damaging	Het
Fam8a1	T	A	13: 46,674,338	L334H	probably damaging	Het
Fat4	C	T	3: 39,002,968	T4271I	probably damaging	Het
Fdxacb1	T	A	9: 50,768,405	L41Q	probably damaging	Het
Fgfr2	C	T	7: 130,261,863	V18M	probably damaging	Het
Gpa33	A	C	1: 166,165,145		probably null	Het
Gpr1	A	G	1: 63,183,467	V203A	probably benign	Het
Gpr107	A	G	2: 31,185,589	I371V	probably benign	Het
Hectd2	T	C	19: 36,604,320	V420A	probably damaging	Het
Hist1h1t	A	G	13: 23,696,236	K124R	probably benign	Het
Iglc3	A	G	16: 19,065,670		probably benign	Het
Igtp	A	G	11: 58,206,629	T209A	probably benign	Het
Itgb7	T	A	15: 102,216,203	N793I	possibly damaging	Het
Kansl1	G	A	11: 104,338,166	R870C	probably damaging	Het
Kcnh6	C	T	11: 106,008,985	R27C	probably damaging	Het
Kif2b	T	A	11: 91,575,830	E542D	possibly damaging	Het
Klhl24	C	A	16: 20,120,247	Y517*	probably null	Het
Klhl25	A	G	7: 75,866,147	D267G	probably benign	Het
Krr1	C	A	10: 111,977,383	F195L	possibly damaging	Het
Lsr	C	T	7: 30,959,031	G95D	probably damaging	Het
Med15	A	T	16: 17,655,191	I504N	probably damaging	Het
Mug1	A	G	6: 121,840,181	R70G	probably benign	Het
Mypn	T	A	10: 63,135,801	Q820L	probably damaging	Het
Nlrp4f	A	T	13: 65,182,989	H863Q	probably benign	Het
Nudt9	G	A	5: 104,059,780	V213M	probably benign	Het
Olfr177	A	G	16: 58,872,484	L222P	probably damaging	Het
Olfr828	A	G	9: 18,815,626	S223P	probably damaging	Het
Olfr891	T	C	9: 38,180,815	T3A	probably benign	Het
Olfr987	T	A	2: 85,331,373	N175I	probably damaging	Het
Orc2	A	G	1: 58,466,072	F475L	probably damaging	Het
Oxa1l	T	A	14: 54,366,832	L183*	probably null	Het
Pcdh20	T	C	14: 88,467,324	T847A	probably damaging	Het
Pcdha6	G	A	18: 36,968,836		probably null	Het
Pip5k1a	T	C	3: 95,067,439	N376S	probably benign	Het
Pkd1l1	T	C	11: 8,909,889	E573G	probably benign	Het
Pkp1	T	A	1: 135,882,597		probably null	Het
Pum1	T	C	4: 130,764,127	I643T	possibly damaging	Het
Rapgef3	A	G	15: 97,758,437	S328P	probably benign	Het
Raver1	A	G	9: 21,090,312	V75A	probably damaging	Het
Rbm28	T	C	6: 29,135,409	E511G	probably damaging	Het
Satb1	T	A	17: 51,742,795	T544S	probably damaging	Het
Sdcbp2	T	C	2: 151,589,215	V248A	probably benign	Het
Sema7a	A	G	9: 57,960,659	D506G	probably damaging	Het
Sept8	A	G	11: 53,537,217	E286G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,422,812	I660V	probably damaging	Het
Stk38l	G	T	6: 146,773,328	D364Y	possibly damaging	Het
Sycp2	T	C	2: 178,358,705		probably null	Het
Tbc1d31	T	A	15: 57,951,666	S580T	probably damaging	Het
Tcerg1l	G	A	7: 138,280,046	R305C	probably damaging	Het
Tek	T	A	4: 94,855,324	Y859N	probably damaging	Het
Tmem132d	A	T	5: 127,784,795	I754N	possibly damaging	Het
Togaram1	G	A	12: 65,016,650	V1580I	probably benign	Het
Troap	A	G	15: 99,082,264	T442A	probably benign	Het
Ttn	A	T	2: 76,881,753		probably benign	Het
Twnk	T	A	19: 45,007,293	V55E	possibly damaging	Het
Uggt1	A	T	1: 36,216,153	Y225*	probably null	Het
Vmn2r109	A	G	17: 20,540,519	*859Q	probably null	Het
Vmn2r17	A	T	5: 109,429,564	I494L	probably benign	Het
Vmn2r88	T	C	14: 51,418,572	V746A	probably damaging	Het
Yae1d1	A	G	13: 17,991,706	L57P	probably damaging	Het
Zfp26	G	A	9: 20,437,841	R476*	probably null	Het
Zmynd8	T	A	2: 165,807,698	Q816L	probably damaging	Het
Zswim8	A	T	14: 20,713,427	H414L	possibly damaging	Het

Other mutations in Tjp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Tjp1	APN	7	65301219	missense	probably benign
IGL00848:Tjp1	APN	7	65303194	missense	probably benign	0.00
IGL01363:Tjp1	APN	7	65302965	missense	possibly damaging	0.94
IGL01526:Tjp1	APN	7	65322658	missense	probably damaging	1.00
IGL01607:Tjp1	APN	7	65336178	missense	possibly damaging	0.94
IGL02223:Tjp1	APN	7	65322601	missense	probably damaging	1.00
IGL02341:Tjp1	APN	7	65312634	missense	probably damaging	1.00
IGL02347:Tjp1	APN	7	65301064	critical splice donor site	probably null
IGL02452:Tjp1	APN	7	65312655	missense	probably damaging	1.00
IGL02512:Tjp1	APN	7	65343667	missense	probably damaging	1.00
IGL02552:Tjp1	APN	7	65299782	nonsense	probably null
IGL02707:Tjp1	APN	7	65329683	nonsense	probably null
IGL02707:Tjp1	APN	7	65329682	missense	possibly damaging	0.85
IGL02939:Tjp1	APN	7	65314890	missense	probably damaging	1.00
IGL03139:Tjp1	APN	7	65340434	splice site	probably benign
IGL03273:Tjp1	APN	7	65299799	missense	probably damaging	1.00
IGL03391:Tjp1	APN	7	65314969	missense	probably damaging	1.00
PIT4453001:Tjp1	UTSW	7	65343614	critical splice donor site	probably null
R0012:Tjp1	UTSW	7	65329775	splice site	probably benign
R0012:Tjp1	UTSW	7	65329775	splice site	probably benign
R0390:Tjp1	UTSW	7	65314990	missense	probably damaging	1.00
R0519:Tjp1	UTSW	7	65302921	missense	probably benign
R0653:Tjp1	UTSW	7	65314755	missense	probably damaging	1.00
R1163:Tjp1	UTSW	7	65323054	missense	probably damaging	1.00
R1544:Tjp1	UTSW	7	65302921	missense	probably benign
R1634:Tjp1	UTSW	7	65302952	missense	possibly damaging	0.94
R1767:Tjp1	UTSW	7	65312553	critical splice donor site	probably null
R1771:Tjp1	UTSW	7	65313005	missense	probably benign	0.45
R1794:Tjp1	UTSW	7	65323129	missense	probably damaging	1.00
R1874:Tjp1	UTSW	7	65319253	missense	probably damaging	1.00
R1971:Tjp1	UTSW	7	65324078	missense	probably damaging	1.00
R1981:Tjp1	UTSW	7	65312855	missense	probably damaging	0.99
R2086:Tjp1	UTSW	7	65312921	missense	probably damaging	1.00
R2310:Tjp1	UTSW	7	65329742	missense	possibly damaging	0.90
R2942:Tjp1	UTSW	7	65318006	missense	probably damaging	1.00
R3974:Tjp1	UTSW	7	65297639	nonsense	probably null
R4295:Tjp1	UTSW	7	65323150	missense	probably damaging	1.00
R4296:Tjp1	UTSW	7	65318489	missense	probably damaging	1.00
R4567:Tjp1	UTSW	7	65306501	missense	probably damaging	1.00
R4574:Tjp1	UTSW	7	65322605	missense	probably damaging	1.00
R4910:Tjp1	UTSW	7	65343727	missense	probably damaging	1.00
R4958:Tjp1	UTSW	7	65336102	nonsense	probably null
R5267:Tjp1	UTSW	7	65323049	missense	probably damaging	1.00
R5371:Tjp1	UTSW	7	65313311	nonsense	probably null
R5422:Tjp1	UTSW	7	65302967	missense	probably damaging	0.99
R5514:Tjp1	UTSW	7	65354861	missense	probably damaging	1.00
R5693:Tjp1	UTSW	7	65342663	missense	possibly damaging	0.96
R5933:Tjp1	UTSW	7	65302852	missense	probably benign	0.29
R6043:Tjp1	UTSW	7	65324089	missense	probably damaging	1.00
R6416:Tjp1	UTSW	7	65313205	missense	possibly damaging	0.76
R6491:Tjp1	UTSW	7	65337117	missense	possibly damaging	0.62
R6525:Tjp1	UTSW	7	65343651	missense	probably damaging	1.00
R6658:Tjp1	UTSW	7	65301077	missense	possibly damaging	0.82
R6917:Tjp1	UTSW	7	65299688	missense	probably damaging	0.99
R6960:Tjp1	UTSW	7	65303015	missense	possibly damaging	0.59
R7235:Tjp1	UTSW	7	65318573	missense	probably benign	0.16
R7274:Tjp1	UTSW	7	65527652	missense	possibly damaging	0.86
R7471:Tjp1	UTSW	7	65314690	missense	probably damaging	0.99
R7475:Tjp1	UTSW	7	65322339	missense	probably damaging	1.00
R7479:Tjp1	UTSW	7	65301180	missense	probably damaging	0.98
R8035:Tjp1	UTSW	7	65342702	missense	probably benign	0.34
R8195:Tjp1	UTSW	7	65343722	missense	probably damaging	1.00
R8276:Tjp1	UTSW	7	65343796	intron	probably benign
R8817:Tjp1	UTSW	7	65303062	missense	probably benign	0.41
R8869:Tjp1	UTSW	7	65336638	missense	probably damaging	1.00
R9043:Tjp1	UTSW	7	65312931	missense	probably benign	0.03
R9079:Tjp1	UTSW	7	65301218	missense	possibly damaging	0.77
R9081:Tjp1	UTSW	7	65314262	missense	possibly damaging	0.71
R9095:Tjp1	UTSW	7	65302997	missense	possibly damaging	0.82
R9145:Tjp1	UTSW	7	65302816	missense	probably benign	0.00
R9215:Tjp1	UTSW	7	65312847	missense	probably benign
X0022:Tjp1	UTSW	7	65302841	missense	possibly damaging	0.75
X0027:Tjp1	UTSW	7	65314759	missense	probably benign	0.18
Z1177:Tjp1	UTSW	7	65343732	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTAACGAGTCACCAGTTTCTC -3'
(R):5'- GAAACCACAGTCTGTGCTCAC -3'

Sequencing Primer
(F):5'- AACGAGTCACCAGTTTCTCTCTAG -3'
(R):5'- GTCTGTGCTCACCAGAGTCAAAATG -3'

Posted On

2016-11-08